(Q84844727)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

review article

1 reference

title

Menkes disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Lisbeth Birk Møller

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

publication date

4 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

511-518

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

12 December 2020

Correction of a mouse model of Menkes disease by the human Menkes gene.

1 reference

12 December 2020

Intragenic deletions at Atp7a in mouse models for Menkes disease

1 reference

12 December 2020

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease

1 reference

12 December 2020

Copper transport and metabolism are normal in aceruloplasminemic mice

1 reference

12 December 2020

Characterization of mouse embryonic cells deficient in the ctr1 high affinity copper transporter. Identification of a Ctr1-independent copper transport system

1 reference

12 December 2020

Essential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPase

1 reference

12 December 2020

Iron and copper homeostasis and intestinal absorption using the Caco2 cell model

1 reference

12 December 2020

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

1 reference

12 December 2020

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

1 reference

12 December 2020

Genetic epidemiology of Menkes disease

1 reference

12 December 2020

Biochemical study on the critical period for treatment of the mottled brindled mouse

1 reference

12 December 2020

Incidence of Menkes disease

1 reference

12 December 2020

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

1 reference

12 December 2020

Are X-linked cutis laxa and Menkes disease allelic?

1 reference

12 December 2020

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

1 reference

12 December 2020

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

12 December 2020

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12 December 2020

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12 December 2020

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

12 December 2020

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux

1 reference

12 December 2020

Copper biochemistry and molecular biology

1 reference

12 December 2020

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

12 December 2020

Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease

1 reference

12 December 2020

Menkes disease: recent advances and new aspects

1 reference

12 December 2020

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

1 reference

12 December 2020

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

1 reference

12 December 2020

Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment

1 reference

12 December 2020

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

1 reference

12 December 2020

Atp7a determines a hierarchy of copper metabolism essential for notochord development

1 reference

12 December 2020

Activation of superoxide dismutases: putting the metal to the pedal

1 reference

12 December 2020

Ctr1 drives intestinal copper absorption and is essential for growth, iron metabolism, and neonatal cardiac function

1 reference

12 December 2020

Testicular morphology and expression of aromatase in testes of mice with the mosaic mutation (Atp7a mo-ms)

1 reference

12 December 2020

Biochemical basis of regulation of human copper-transporting ATPases

1 reference

12 December 2020

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome

1 reference

12 December 2020

Zinc, antioxidant systems and metallothionein in metal mediated-apoptosis: biochemical and cytochemical aspects

1 reference

12 December 2020

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

1 reference

12 December 2020

Neonatal diagnosis and treatment of Menkes disease

1 reference

12 December 2020

In vivo correction of a Menkes disease model using antisense oligonucleotides

1 reference

12 December 2020

Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism

1 reference

12 December 2020

Copper transport to the brain by the blood-brain barrier and blood-CSF barrier

1 reference

12 December 2020

New roles for copper metabolism in cell proliferation, signaling, and disease

1 reference

12 December 2020

Generation of superoxide radicals by copper-glutathione complexes: redox-consequences associated with their interaction with reduced glutathione

1 reference

12 December 2020

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

1 reference

12 December 2020

Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model

1 reference

12 December 2020

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients

1 reference

12 December 2020

Evolution of P-type ATPases

1 reference

12 December 2020

Expression of copper trafficking genes in the mouse brain

1 reference

12 December 2020

Mutation spectrum of ATP7A, the gene defective in Menkes disease

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.187

7 January 2021

inferred from DOI database lookup

NMDA receptor activation mediates copper homeostasis in hippocampal neurons

1 reference

12 December 2020

A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis

1 reference

12 December 2020

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

1 reference

12 December 2020

Downregulation of myelination, energy, and translational genes in Menkes disease brain

1 reference

12 December 2020

Copper exposure induces trafficking of the menkes protein in intestinal epithelium of ATP7A transgenic mice

1 reference

12 December 2020

Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease

1 reference

12 December 2020

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

1 reference

12 December 2020

Menkes Disease and the Occipital Horn Syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.187

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2009.187

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19888294%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

19888294

1 reference